Varaico: Literature-Extracted Genetic Variants

Gene:PAK1
Variant:p.L107F
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PAK1

NM_002576.5:p.L107F

Associated Papers

Impaired Function of PLEKHG2, a Rho-Guanine Nucleotide-Exchange Factor, Disrupts Corticogenesis in Neurodevelopmental Phenotypes.

Nishikawa M et al.

Cells, 2022

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.

Horn S et al.

Brain : a Journal of Neurology, 2019

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder.

Harms FL et al.

American Journal of Human Genetics, 2018

Kinase-independent role for CRAF-driving tumour radioresistance via CHK2.

Advani SJ et al.

Nature Communications, 2015

B-Raf and Raf-1 are regulated by distinct autoregulatory mechanisms.

Tran NH et al.

The Journal of Biological Chemistry, 2005

p41-Arc subunit of human Arp2/3 complex is a p21-activated kinase-1-interacting substrate.

Vadlamudi RK et al.

Embo Reports, 2004

Phosphorylation of Raf-1 by p21-activated kinase 1 and Src regulates Raf-1 autoinhibition.

Tran NH et al.

The Journal of Biological Chemistry, 2003

The mechanism of PAK activation. Autophosphorylation events in both regulatory and kinase domains control activity.

Chong C et al.

The Journal of Biological Chemistry, 2001

Regulation of the enzymatic and motor activities of myosin I.

Barylko B et al.

Biochimica Et Biophysica Acta, 2000

Differential effects of PAK1-activating mutations reveal activity-dependent and -independent effects on cytoskeletal regulation.

Frost JA et al.

The Journal of Biological Chemistry, 1998

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."